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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MECP2
Variant:
p.Q47*
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MECP2
NM_004992.4:p.Q47*
hg38:chrX:154032445 G>A
Frequencies & domains
Associated Papers
De novo mosaic MECP2 mutation in a female with Rett syndrome.
Alexandrou A et al.
Clinical Case Reports,
2019
30847208 (PubMed
)
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